ArticlePrenatal diagnosis2016
Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.
Article in Prenatal diagnosis, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 67 citations in OpenAlex.
- Modelling the cost-effectiveness of non-invasive prenatal testing in the English sickle cell and thalassaemia screening pathway.Diagnostic and prognostic research · 2026Article
- Management of pregnancy in women with monogenic diabetes due to mutations inFrontiers in genetics · 2024Review
- Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.Diabetologia · 2023Article
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.Diagnostics (Basel, Switzerland) · 2023Review
- The History and Future of Basic and Translational Cell-Free DNA Research at a Glance.Diagnostics (Basel, Switzerland) · 2022Review
- Nanoparticle-Enhanced Surface Plasmon Resonance Imaging Enables the Ultrasensitive Detection of Non-Amplified Cell-Free Fetal DNA for Non-Invasive Prenatal Testing.Analytical chemistry · 2022Article
- Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.BMC medical genomics · 2021Article
- Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach.BMC medical genomics · 2021Article
- Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.BMC medical genomics · 2021Article
- Current Overview of Osteogenesis Imperfecta.Medicina (Kaunas, Lithuania) · 2021Review
- Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β-thalassemia by a novel method of noninvasive prenatal testing.Prenatal diagnosis · 2021Article
- Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.Frontiers in genetics · 2021Review
- Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- cfDNA screening and diagnosis of monogenic disorders - where are we heading?Prenatal diagnosis · 2018Article
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications.European journal of human genetics : EJHG · 2018Review
- Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.American journal of human genetics · 2017Article
- Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.Prenatal diagnosis · 2017Article
- Healthy children without fear: Reproductive options for patients or couples carrying inherited diseases.EMBO reports · 2017Article
- Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues.Current genetic medicine reports · 2017Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveEvaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
methodTotal costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders.
resultsFor autosomal dominant conditions, where NIPD molecular techniques are straightforward, NIPD cost £314 less than invasive testing. NIPD for autosomal recessive and X-linked conditions requires more complicated technical approaches and total costs were more than invasive testing, e.g. NIPD for spinal muscular atrophy was £1090 more than invasive testing. Impact of test uptake on costs was assessed using sickle cell disorder as an example. Anticipated high uptake of NIPD resulted in an incremental cost of NIPD over invasive testing of £48 635 per 100 pregnancies at risk of sickle cell disorder.
conclusionTotal costs of NIPD are dependent upon the complexity of the testing technique required. Anticipated increased demand for testing may have economic implications for prenatal diagnostic services. Ethical issues requiring further consideration are highlighted including directing resources to NIPD when used for information only and restricting access to safe tests if it is not cost-effective to develop NIPD for rare conditions. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.